1. Albinism (Hypo pigmentation) By: Olivia Heel and Brandon Kenney

2. Medical Albinism is the lack of pigmentation in the eyes, skin, and hair. It is a recessive trait that is typically inherited from BOTH parents. Albinism is classified as a “rare” disorder. Less than 200,000 Americans have it and only 1/17,000 people in the world have it.

3. Medical- Continued Both animals and humans can carry the disease. Possible genotypes: Aa x Aa; aa x aa; Aa x aa. Carriers have a %50 chance of passing the gene on. Only 1 out of 70 is a carrier. A a AAAa aa AaAa If both parents are heterozygous, there is a %25 chance their child will have albinism.

4. Medical-Continued Albinism causes poor vision and to sunburn easily. People with albinism have a normal life span. However, they are more at risk for skin cancer which can cause earlier deaths. Recent research has shown that albinism can lead to Hermansky-Pudlak Syndrome which causes bleeding and bruising problems. Also, new surgeries help with eye and vision problems.

5. Medical- Continued (again!!) Physical Traits: – Little or no pigmentation in hair, eyes, skin. – Patchy skin color. – Crossed eyes/lazy eyes/rapid eye movements. – Most animals have red or pinkish eyes and humans normally have light blue eyes. (The red/pink color comes from lack of pigmentation so the color of the blood vessels in the iris shows through.)

6. Medical- (You know the drill) Diagnosis: – Observation (abnormally light skin/hair) – Hairbulb Pigmentation Test: tests if there is pigment in the hair. A positive test will come out dark, a negative test yields light hair and thus the lack of melanin creating pigment. – Tyrosinase test: tests the rate at which hair converts tyrosine into the chemical DOPA, which is then made into pigment. – Genetic testing – Ophthalmologist can test for eye pigmentation. – Blood tests can help identify carriers of albinism.

7. Medical- Continued Treatment: – There is no cure for albinism – Surgeries can help with rapid eye movements/lazy eye/cross eye/ and pigmentation of eye. – Wear high SPF sunscreen at all times of the year, UV protective clothing, and sunglasses. – Glasses and bifocals are required to help with vision impairments.

8. Personal Everyday life for albino’s is pretty typical. They can do the same things they normally would if they didn’t have the disorder; they can hang with friends, go to movies and restaurants, and travel comfortably. Everyday life for albino’s is pretty typical. They can do the same things they normally would if they didn’t have the disorder; they can hang with friends, go to movies and restaurants, and travel comfortably. Quality of life is a little bit different. Albino’s receive a lot of unfair discrimination because of their disorder and can’t enjoy bright sunny days as much because of their sensitivity to the sun’s UV rays. Thus, it causes a reduced quality of life compared to those without the disorder. Quality of life is a little bit different. Albino’s receive a lot of unfair discrimination because of their disorder and can’t enjoy bright sunny days as much because of their sensitivity to the sun’s UV rays. Thus, it causes a reduced quality of life compared to those without the disorder.

9. Personal-Continued Limitations: Limitations: –can’t be exposed to sun for long periods of time due to increased sensitivity to sunlight. –Some eye dysfunctions can limit vision (cross eye, lazy eye, rapid eye movements). Vision problems also cause increased sensitivity to bright light. –The possibility of a cure is highly unlikely. Albinism thus far has been deemed “incurable.”

10. Coping http://www.albinism.org/publications/soci al.html (NOAH) http://www.albinism.org/publications/soci al.html (NOAH) http://www.albinism.org/publications/soci al.html http://www.albinism.org/publications/soci al.html http://www.albinisme.no/files/ http://www.albinisme.no/files/ http://www.albinisme.no/files/ http://www.medhelp.org/web/hpsn.htm (Hermansky-Pudlak Syndrome help site) http://www.medhelp.org/web/hpsn.htm (Hermansky-Pudlak Syndrome help site) http://www.medhelp.org/web/hpsn.htm http://www.visionofchildren.org/ (helps with vision impairment part of albinism) http://www.visionofchildren.org/ (helps with vision impairment part of albinism) http://www.visionofchildren.org/

11. Thanks to… http://en.wikipedia.org/wiki/Albinism http://en.wikipedia.org/wiki/Albinism http://en.wikipedia.org/wiki/Albinism http://www.albinism.org/publications/wha t_is_albinism.html http://www.albinism.org/publications/wha t_is_albinism.html http://www.albinism.org/publications/wha t_is_albinism.html http://www.albinism.org/publications/wha t_is_albinism.html http://www.nlm.nih.gov/medlineplus/ency /article/001479.htm http://www.nlm.nih.gov/medlineplus/ency /article/001479.htm http://www.nlm.nih.gov/medlineplus/ency /article/001479.htm http://www.nlm.nih.gov/medlineplus/ency /article/001479.htm http://www.kumc.edu/gec/support/albinis m.html http://www.kumc.edu/gec/support/albinis m.html http://www.kumc.edu/gec/support/albinis m.html http://www.kumc.edu/gec/support/albinis m.html